Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60852846_60852848del | CA2687403978 | CHD7 | c.6121_6123del (p.Ser2041del) c.1717-9383_1717-9381del (n.1717-9383_1717-9381del) c.6211_6213del (p.Ser2071del) c.4198_4200del (p.Ser1400del) c.3748_3750del (p.Ser1250del) c.2956_2958del (p.Ser986del) | gnomAD v4 |
8 | g.60852847C>A | CA371324255 | CHD7 | c.6122C>A (p.Ser2041Tyr) c.1717-9382C>A (n.1717-9382C>A) c.6212C>A (p.Ser2071Tyr) c.4199C>A (p.Ser1400Tyr) c.3749C>A (p.Ser1250Tyr) c.2957C>A (p.Ser986Tyr) | |
8 | g.60852847C= | CA1788102439 | CHD7 | c.6122C= (p.Ser2041=) c.1717-9382C= (n.1717-9382C=) c.6212C= (p.Ser2071=) c.4199C= (p.Ser1400=) c.3749C= (p.Ser1250=) c.2957C= (p.Ser986=) | |
8 | g.60852847C>G | CA4760539 | CHD7 | c.6122C>G (p.Ser2041Cys) c.1717-9382C>G (n.1717-9382C>G) c.6212C>G (p.Ser2071Cys) c.4199C>G (p.Ser1400Cys) c.3749C>G (p.Ser1250Cys) c.2957C>G (p.Ser986Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60852847C>T | CA371324257 | CHD7 | c.6122C>T (p.Ser2041Phe) c.1717-9382C>T (n.1717-9382C>T) c.6212C>T (p.Ser2071Phe) c.4199C>T (p.Ser1400Phe) c.3749C>T (p.Ser1250Phe) c.2957C>T (p.Ser986Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.60852848C>A | CA461104897 | CHD7 | c.6123C>A (p.Ser2041=) c.1717-9381C>A (n.1717-9381C>A) c.6213C>A (p.Ser2071=) c.4200C>A (p.Ser1400=) c.3750C>A (p.Ser1250=) c.2958C>A (p.Ser986=) | |
8 | g.60852848C>G | CA461104898 | CHD7 | c.6123C>G (p.Ser2041=) c.1717-9381C>G (n.1717-9381C>G) c.6213C>G (p.Ser2071=) c.4200C>G (p.Ser1400=) c.3750C>G (p.Ser1250=) c.2958C>G (p.Ser986=) | |
8 | g.60852848C>T | CA461104899 | CHD7 | c.6123C>T (p.Ser2041=) c.1717-9381C>T (n.1717-9381C>T) c.6213C>T (p.Ser2071=) c.4200C>T (p.Ser1400=) c.3750C>T (p.Ser1250=) c.2958C>T (p.Ser986=) | ClinVar dbSNP COSMIC |
8 | g.60852849A>C | CA371324259 | CHD7 | c.6124A>C (p.Ile2042Leu) c.1717-9380A>C (n.1717-9380A>C) c.6214A>C (p.Ile2072Leu) c.4201A>C (p.Ile1401Leu) c.3751A>C (p.Ile1251Leu) c.2959A>C (p.Ile987Leu) | |
8 | g.60852849A>G | CA371324261 | CHD7 | c.6124A>G (p.Ile2042Val) c.1717-9380A>G (n.1717-9380A>G) c.6214A>G (p.Ile2072Val) c.4201A>G (p.Ile1401Val) c.3751A>G (p.Ile1251Val) c.2959A>G (p.Ile987Val) | |
8 | g.60852849A>T | CA371324262 | CHD7 | c.6124A>T (p.Ile2042Leu) c.1717-9380A>T (n.1717-9380A>T) c.6214A>T (p.Ile2072Leu) c.4201A>T (p.Ile1401Leu) c.3751A>T (p.Ile1251Leu) c.2959A>T (p.Ile987Leu) | |
8 | g.60852850T>A | CA371324264 | CHD7 | c.6125T>A (p.Ile2042Lys) c.1717-9379T>A (n.1717-9379T>A) c.6215T>A (p.Ile2072Lys) c.4202T>A (p.Ile1401Lys) c.3752T>A (p.Ile1251Lys) c.2960T>A (p.Ile987Lys) | |
8 | g.60852850T>C | CA371324265 | CHD7 | c.6125T>C (p.Ile2042Thr) c.1717-9379T>C (n.1717-9379T>C) c.6215T>C (p.Ile2072Thr) c.4202T>C (p.Ile1401Thr) c.3752T>C (p.Ile1251Thr) c.2960T>C (p.Ile987Thr) | |
8 | g.60852850T>G | CA371324267 | CHD7 | c.6125T>G (p.Ile2042Arg) c.1717-9379T>G (n.1717-9379T>G) c.6215T>G (p.Ile2072Arg) c.4202T>G (p.Ile1401Arg) c.3752T>G (p.Ile1251Arg) c.2960T>G (p.Ile987Arg) | |
8 | g.60852851A>C | CA461104904 | CHD7 | c.6126A>C (p.Ile2042=) c.1717-9378A>C (n.1717-9378A>C) c.6216A>C (p.Ile2072=) c.4203A>C (p.Ile1401=) c.3753A>C (p.Ile1251=) c.2961A>C (p.Ile987=) | |
8 | g.60852851A>G | CA371324268 | CHD7 | c.6126A>G (p.Ile2042Met) c.1717-9378A>G (n.1717-9378A>G) c.6216A>G (p.Ile2072Met) c.4203A>G (p.Ile1401Met) c.3753A>G (p.Ile1251Met) c.2961A>G (p.Ile987Met) | |
8 | g.60852851A>T | CA461104905 | CHD7 | c.6126A>T (p.Ile2042=) c.1717-9378A>T (n.1717-9378A>T) c.6216A>T (p.Ile2072=) c.4203A>T (p.Ile1401=) c.3753A>T (p.Ile1251=) c.2961A>T (p.Ile987=) | |
8 | g.60852852A>C | CA371324273 | CHD7 | c.6127A>C (p.Ile2043Leu) c.1717-9377A>C (n.1717-9377A>C) c.6217A>C (p.Ile2073Leu) c.4204A>C (p.Ile1402Leu) c.3754A>C (p.Ile1252Leu) c.2962A>C (p.Ile988Leu) | |
8 | g.60852852A>G | CA371324272 | CHD7 | c.6127A>G (p.Ile2043Val) c.1717-9377A>G (n.1717-9377A>G) c.6217A>G (p.Ile2073Val) c.4204A>G (p.Ile1402Val) c.3754A>G (p.Ile1252Val) c.2962A>G (p.Ile988Val) | gnomAD v4 |
8 | g.60852852A>T | CA371324270 | CHD7 | c.6127A>T (p.Ile2043Phe) c.1717-9377A>T (n.1717-9377A>T) c.6217A>T (p.Ile2073Phe) c.4204A>T (p.Ile1402Phe) c.3754A>T (p.Ile1252Phe) c.2962A>T (p.Ile988Phe) | |
8 | g.60852853T>A | CA371324275 | CHD7 | c.6128T>A (p.Ile2043Asn) c.1717-9376T>A (n.1717-9376T>A) c.6218T>A (p.Ile2073Asn) c.4205T>A (p.Ile1402Asn) c.3755T>A (p.Ile1252Asn) c.2963T>A (p.Ile988Asn) | |
8 | g.60852853T>C | CA371324276 | CHD7 | c.6128T>C (p.Ile2043Thr) c.1717-9376T>C (n.1717-9376T>C) c.6218T>C (p.Ile2073Thr) c.4205T>C (p.Ile1402Thr) c.3755T>C (p.Ile1252Thr) c.2963T>C (p.Ile988Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60852853T>G | CA371324277 | CHD7 | c.6128T>G (p.Ile2043Ser) c.1717-9376T>G (n.1717-9376T>G) c.6218T>G (p.Ile2073Ser) c.4205T>G (p.Ile1402Ser) c.3755T>G (p.Ile1252Ser) c.2963T>G (p.Ile988Ser) | |
8 | g.60852853T= | CA1788102443 | CHD7 | c.6128T= (p.Ile2043=) c.1717-9376T= (n.1717-9376T=) c.6218T= (p.Ile2073=) c.4205T= (p.Ile1402=) c.3755T= (p.Ile1252=) c.2963T= (p.Ile988=) | |
8 | g.60852854T>A | CA461104908 | CHD7 | c.6129T>A (p.Ile2043=) c.1717-9375T>A (n.1717-9375T>A) c.6219T>A (p.Ile2073=) c.4206T>A (p.Ile1402=) c.3756T>A (p.Ile1252=) c.2964T>A (p.Ile988=) | |
8 | g.60852854T>C | CA461104909 | CHD7 | c.6129T>C (p.Ile2043=) c.1717-9375T>C (n.1717-9375T>C) c.6219T>C (p.Ile2073=) c.4206T>C (p.Ile1402=) c.3756T>C (p.Ile1252=) c.2964T>C (p.Ile988=) | dbSNP |
8 | g.60852854T>G | CA371324279 | CHD7 | c.6129T>G (p.Ile2043Met) c.1717-9375T>G (n.1717-9375T>G) c.6219T>G (p.Ile2073Met) c.4206T>G (p.Ile1402Met) c.3756T>G (p.Ile1252Met) c.2964T>G (p.Ile988Met) | |
8 | g.60852854T= | CA1788102447 | CHD7 | c.6129T= (p.Ile2043=) c.1717-9375T= (n.1717-9375T=) c.6219T= (p.Ile2073=) c.4206T= (p.Ile1402=) c.3756T= (p.Ile1252=) c.2964T= (p.Ile988=) | |
8 | g.60852855G>A | CA371324280 | CHD7 | c.6130G>A (p.Glu2044Lys) c.1717-9374G>A (n.1717-9374G>A) c.6220G>A (p.Glu2074Lys) c.4207G>A (p.Glu1403Lys) c.3757G>A (p.Glu1253Lys) c.2965G>A (p.Glu989Lys) | |
8 | g.60852855G>C | CA371324282 | CHD7 | c.6130G>C (p.Glu2044Gln) c.1717-9374G>C (n.1717-9374G>C) c.6220G>C (p.Glu2074Gln) c.4207G>C (p.Glu1403Gln) c.3757G>C (p.Glu1253Gln) c.2965G>C (p.Glu989Gln) | dbSNP |
8 | g.60852855G= | CA1788102450 | CHD7 | c.6130G= (p.Glu2044=) c.1717-9374G= (n.1717-9374G=) c.6220G= (p.Glu2074=) c.4207G= (p.Glu1403=) c.3757G= (p.Glu1253=) c.2965G= (p.Glu989=) | |
8 | g.60852855G>T | CA371324283 | CHD7 | c.6130G>T (p.Glu2044Ter) c.1717-9374G>T (n.1717-9374G>T) c.6220G>T (p.Glu2074Ter) c.4207G>T (p.Glu1403Ter) c.3757G>T (p.Glu1253Ter) c.2965G>T (p.Glu989Ter) | |
8 | g.60852860_60852878dup | CA2695209407 | CHD7 | c.6135_6153dup (p.Ser2052AspfsTer14) c.1717-9369_1717-9351dup (n.1717-9369_1717-9351dup) c.6225_6243dup (p.Ser2082AspfsTer14) c.4212_4230dup (p.Ser1411AspfsTer14) c.3762_3780dup (p.Ser1261AspfsTer14) c.2970_2988dup (p.Ser997AspfsTer14) | |
8 | g.60852856A>C | CA371324285 | CHD7 | c.6131A>C (p.Glu2044Ala) c.1717-9373A>C (n.1717-9373A>C) c.6221A>C (p.Glu2074Ala) c.4208A>C (p.Glu1403Ala) c.3758A>C (p.Glu1253Ala) c.2966A>C (p.Glu989Ala) | |
8 | g.60852856A>G | CA371324286 | CHD7 | c.6131A>G (p.Glu2044Gly) c.1717-9373A>G (n.1717-9373A>G) c.6221A>G (p.Glu2074Gly) c.4208A>G (p.Glu1403Gly) c.3758A>G (p.Glu1253Gly) c.2966A>G (p.Glu989Gly) | |
8 | g.60852856A>T | CA371324287 | CHD7 | c.6131A>T (p.Glu2044Val) c.1717-9373A>T (n.1717-9373A>T) c.6221A>T (p.Glu2074Val) c.4208A>T (p.Glu1403Val) c.3758A>T (p.Glu1253Val) c.2966A>T (p.Glu989Val) | |
8 | g.60852857G>A | CA461104911 | CHD7 | c.6132G>A (p.Glu2044=) c.1717-9372G>A (n.1717-9372G>A) c.6222G>A (p.Glu2074=) c.4209G>A (p.Glu1403=) c.3759G>A (p.Glu1253=) c.2967G>A (p.Glu989=) | |
8 | g.60852857G>C | CA371324288 | CHD7 | c.6132G>C (p.Glu2044Asp) c.1717-9372G>C (n.1717-9372G>C) c.6222G>C (p.Glu2074Asp) c.4209G>C (p.Glu1403Asp) c.3759G>C (p.Glu1253Asp) c.2967G>C (p.Glu989Asp) | |
8 | g.60852857G>T | CA371324289 | CHD7 | c.6132G>T (p.Glu2044Asp) c.1717-9372G>T (n.1717-9372G>T) c.6222G>T (p.Glu2074Asp) c.4209G>T (p.Glu1403Asp) c.3759G>T (p.Glu1253Asp) c.2967G>T (p.Glu989Asp) | |
8 | g.60852858C>A | CA371324293 | CHD7 | c.6133C>A (p.Pro2045Thr) c.1717-9371C>A (n.1717-9371C>A) c.6223C>A (p.Pro2075Thr) c.4210C>A (p.Pro1404Thr) c.3760C>A (p.Pro1254Thr) c.2968C>A (p.Pro990Thr) | |
8 | g.60852858C>G | CA371324294 | CHD7 | c.6133C>G (p.Pro2045Ala) c.1717-9371C>G (n.1717-9371C>G) c.6223C>G (p.Pro2075Ala) c.4210C>G (p.Pro1404Ala) c.3760C>G (p.Pro1254Ala) c.2968C>G (p.Pro990Ala) | |
8 | g.60852858C>T | CA371324291 | CHD7 | c.6133C>T (p.Pro2045Ser) c.1717-9371C>T (n.1717-9371C>T) c.6223C>T (p.Pro2075Ser) c.4210C>T (p.Pro1404Ser) c.3760C>T (p.Pro1254Ser) c.2968C>T (p.Pro990Ser) | |
8 | g.60852859C>A | CA371324297 | CHD7 | c.6134C>A (p.Pro2045Gln) c.1717-9370C>A (n.1717-9370C>A) c.6224C>A (p.Pro2075Gln) c.4211C>A (p.Pro1404Gln) c.3761C>A (p.Pro1254Gln) c.2969C>A (p.Pro990Gln) | dbSNP |
8 | g.60852859C= | CA1788102454 | CHD7 | c.6134C= (p.Pro2045=) c.1717-9370C= (n.1717-9370C=) c.6224C= (p.Pro2075=) c.4211C= (p.Pro1404=) c.3761C= (p.Pro1254=) c.2969C= (p.Pro990=) | |
8 | g.60852859C>G | CA371324295 | CHD7 | c.6134C>G (p.Pro2045Arg) c.1717-9370C>G (n.1717-9370C>G) c.6224C>G (p.Pro2075Arg) c.4211C>G (p.Pro1404Arg) c.3761C>G (p.Pro1254Arg) c.2969C>G (p.Pro990Arg) | |
8 | g.60852859C>T | CA371324296 | CHD7 | c.6134C>T (p.Pro2045Leu) c.1717-9370C>T (n.1717-9370C>T) c.6224C>T (p.Pro2075Leu) c.4211C>T (p.Pro1404Leu) c.3761C>T (p.Pro1254Leu) c.2969C>T (p.Pro990Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60852860G>A | CA171756 | CHD7 | c.6135G>A (p.Pro2045=) c.1717-9369G>A (n.1717-9369G>A) c.6225G>A (p.Pro2075=) c.4212G>A (p.Pro1404=) c.3762G>A (p.Pro1254=) c.2970G>A (p.Pro990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60852860G>C | CA4760540 | CHD7 | c.6135G>C (p.Pro2045=) c.1717-9369G>C (n.1717-9369G>C) c.6225G>C (p.Pro2075=) c.4212G>C (p.Pro1404=) c.3762G>C (p.Pro1254=) c.2970G>C (p.Pro990=) | dbSNP ExAC gnomAD v2 |
8 | g.60852860G= | CA1788102470 | CHD7 | c.6135G= (p.Pro2045=) c.1717-9369G= (n.1717-9369G=) c.6225G= (p.Pro2075=) c.4212G= (p.Pro1404=) c.3762G= (p.Pro1254=) c.2970G= (p.Pro990=) | |
8 | g.60852860G>T | CA461104913 | CHD7 | c.6135G>T (p.Pro2045=) c.1717-9369G>T (n.1717-9369G>T) c.6225G>T (p.Pro2075=) c.4212G>T (p.Pro1404=) c.3762G>T (p.Pro1254=) c.2970G>T (p.Pro990=) | ClinVar dbSNP gnomAD v2 |